Variant report

Variant	rs912758
Chromosome Location	chr1:179054692-179054693
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:179054659-179055082	GM12892	blood:	n/a	n/a
2	STAT3	chr1:179054638-179054787	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:179054563-179055405	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:179054455-179055569	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:179054485-179055258	GM12892	blood:	n/a	n/a
6	POLR2A	chr1:179054636-179055002	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:179054533-179055548	K562	blood:	n/a	n/a
8	POLR2A	chr1:179054573-179055497	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:179054501-179055612	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:179054569-179055482	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:179054590-179055479	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:179054674-179055106	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:179054589-179055526	A549	lung:	n/a	n/a
14	POLR2A	chr1:179054565-179055570	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:179054526-179055613	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
TOR3A	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1046385	0.81[CEU][hapmap]
rs10798649	0.87[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10798650	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10798651	0.91[CEU][hapmap];0.87[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10913682	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12021551	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1220	0.86[CHB][hapmap];0.81[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2025584	0.90[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3753533	0.88[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3766626	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3766628	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3820163	0.91[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4297249	0.92[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4652351	0.89[AMR][1000 genomes]
rs6425513	0.91[CEU][hapmap];0.85[CHB][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7515519	0.86[AMR][1000 genomes]
rs7526438	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7549040	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9283394	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9727621	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9727648	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs912758	TOR3A	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179052200-179062200	Weak transcription	Small Intestine	intestine
2	chr1:179052400-179054800	Weak transcription	Aorta	Aorta
3	chr1:179052400-179054800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:179052400-179054800	Weak transcription	Brain Substantia Nigra	brain
5	chr1:179052400-179054800	Weak transcription	Left Ventricle	heart
6	chr1:179052400-179054800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:179052400-179054800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:179052400-179056000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:179052400-179056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:179052400-179056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:179052400-179056400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:179052400-179056600	Weak transcription	Right Atrium	heart
13	chr1:179052400-179056600	Weak transcription	HUVEC	blood vessel
14	chr1:179052400-179058800	Weak transcription	NH-A	brain
15	chr1:179052400-179059000	Weak transcription	Psoas Muscle	Psoas
16	chr1:179052400-179060000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:179052400-179060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:179052400-179060800	Weak transcription	Fetal Lung	lung
19	chr1:179052400-179062600	Weak transcription	Fetal Kidney	kidney
20	chr1:179052600-179054800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:179052600-179054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:179052600-179056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:179052600-179056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:179052600-179056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:179052600-179057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:179052600-179058800	Weak transcription	NHDF-Ad	bronchial
27	chr1:179052600-179064200	Weak transcription	Fetal Brain Male	brain
28	chr1:179052800-179054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:179052800-179054800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:179052800-179054800	Weak transcription	Esophagus	oesophagus
31	chr1:179052800-179055000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:179052800-179055000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:179052800-179056200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:179052800-179057400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:179052800-179059400	Weak transcription	Fetal Heart	heart
36	chr1:179053000-179054800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:179053000-179055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:179053000-179056200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr1:179053000-179056600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:179053000-179059600	Weak transcription	HSMM	muscle
41	chr1:179053000-179060400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr1:179053000-179072200	Strong transcription	Primary T cells from cord blood	blood
43	chr1:179053200-179054800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:179053200-179054800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:179053200-179054800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr1:179053200-179054800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:179053200-179054800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:179053200-179054800	Weak transcription	Brain Hippocampus Middle	brain
49	chr1:179053200-179055000	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr1:179053200-179056200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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